title: Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?
abstract: The association of Coats disease with intrauterine growth retardation, intracranial calcification, leukodystrophy, brain cysts, osteopenia, and gastrointestinal bleeding defines Coats plus syndrome caused by mutations in the CTC1 gene, encoding conserved telomere maintenance component 1. Here, we report on a child with exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly, and short stature, in whom no mutations in CTC1 were found. Our patient shares some features seen in other diseases associated with telomere shortening including Hoyeraal-Hreidarsson and Revesz syndromes. We therefore measured telomere length by Flow-Fish which was normal. The association of duodenal atresia and microcephaly also suggested a diagnosis of Feingold syndrome. However, direct sequencing of MYCN was normal, and we did not detect any hemizygous deletion of the miR-17∼92 polycistronic miRNA cluster. To our knowledge, the phenotype we report on has not been described previously, leading us to speculate that this condition may represent a new syndrome.
authors.affiliation: CHU Nantes, Service de Génétique Médicale, Nantes, France; INSERM, UMR-S 957, 1 Rue Gaston Veil, Nantes, France. bertrand.isidor@chu-nantes.fr
authors.forename: Bertrand
authors.initials: B
authors.lastname: Isidor
authors.forename: Guylène
authors.initials: G
authors.lastname: Le Meur
authors.forename: Carole
authors.initials: C
authors.lastname: Conti
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Caldagues
authors.forename: Elodie
authors.initials: E
authors.lastname: Lainey
authors.forename: Elise
authors.initials: E
authors.lastname: Launay
authors.forename: Marc David
authors.initials: MD
authors.lastname: Leclair
authors.forename: Thomas
authors.initials: T
authors.lastname: Le Francois
authors.forename: Olivier
authors.initials: O
authors.lastname: Pichon
authors.forename: Pierre
authors.initials: P
authors.lastname: Boisseau
authors.forename: Audrey
authors.initials: A
authors.lastname: Migraine
authors.forename: Boris
authors.initials: B
authors.lastname: Keren
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Caignec
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
authors.forename: Albert
authors.initials: A
authors.lastname: David
mesh_terms: D000015:Abnormalities, Multiple; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology*; D002114:Calcinosis / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D004380:Duodenal Obstruction / Q000235:genetics / Q000473:pathology*; D004392:Dwarfism / Q000235:genetics / Q000473:pathology*; D005122:Exudates and Transudates; D005832:Genital Diseases, Male / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007409:Intestinal Atresia; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology*; D010413:Penis / Q000002:abnormalities / Q000473:pathology; D010641:Phenotype; D017689:Polydactyly / Q000235:genetics / Q000473:pathology*; D058456:Retinal Telangiectasis / Q000235:genetics / Q000473:pathology*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
keywords: cerebral calcifications; duodenal atresia; exudative citroretinopathy; microcephaly; micropenis; prezxial polydactyly; short stature